A polymorphism of the NFKBIA gene is associated with Crohn's disease patients lacking a predisposing allele of the CARD15 gene

Klein, Wolfram; Tromm, Andreas; Folwaczny, C; Hagedorn, Michaela; Duerig, N; Epplen, Jörg T.; Schmiegel, Wolff; Griga, Thomas

doi:10.1007/s00384-003-0531-y

Cited by 65 publications

(56 citation statements)

References 20 publications

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“…In studies with type 1 diabetes mellitus, AA genotype of rs696 was a risk factor for latent autoimmune diabetes in adults [17]. rs696 variation has also been associated with development of type 2 diabetes and Crohn's diseases, resulting in Th1/Th2 imbalance as the pathogenesis [16,37]. Recently, Hung et al [38] investigating IKBa -881A, -826T, -550A, -519T and -297C polymorphisms concluded that NFKBIA promoter gene polymorphisms (-826 C/T, -826 T/T genotypes) are higher in BD, but only -826 T/T genotype is associated with skin lesions in Taiwanese patients with BD.…”

Section: Discussionmentioning

confidence: 99%

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Association of NFKB1 and NFKBIA Polymorphisms in Relation to Susceptibility of Behçet's Disease

et al. 2014

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Behc ßet's disease (BD) is a chronic inflammatory autoimmune disease. Although raised levels of proinflammatory cytokines in BD have been reported, the pathogenesis is still unknown. The aim of this study was to investigate the association of NFKB1 and NFKBIA polymorphisms and their single and combined analysis effects on susceptibility of BD in Turkish population. We analysed the distribution of NFKB1 -94 ins/del ATTG (rs28362491) and NFKBIA 3 0 UTR A?G (rs696) polymorphisms using PCR-RFLP method in 89 patients with BD and 190 controls in this population. Statistical analysis of the results was performed by calculating OR, and 95% CI via v 2 test and using Bonferroni correction. According to the significant results of both single and combined genotype analysis, the frequencies of ins/ins genotype and ins allele of rs28362491 were significantly higher in patients with BD (Pc = 0.003, 0.004, respectively). Also, higher frequencies of the rs696 variant containing AA genotype was found in patients with BD (Pc = 0.0033), whereas no statistical significant differences in distribution of the alleles of rs696 polymorphism in patients and controls. In addition, according to the combined genotype analysis, the wild type of both rs28362491 and rs696 polymorphisms (ins/ins/AA genotype) was also significantly higher in BD cases (Pc = 0.044). Our findings prove that both single and combined genotype analysis of rs28362491 and rs696 polymorphisms indicate that the wild genotypes of both two SNPs (ins/ins and AA genotypes) and ins/ins/AA combined genotype are strongly associated with enhanced risk of BD in a Turkish population.

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Section: Discussionmentioning

confidence: 99%

“…This gene probably plays an important role in inflammatory immunological diseases such as Crohn's disease or autoimmune diabetes mellitus [16,17]. According to Goto et al [18], the alterations in the expression of IjBa protein were related to the SNP rs696 in the 3 0 UTR region of the NFKBIA gene and led to a change in NF-jB activity.…”

Section: Introductionmentioning

confidence: 99%

Association of NFKB1 and NFKBIA Polymorphisms in Relation to Susceptibility of Behçet's Disease

et al. 2014

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“…Many polymorphisms of the NFKBIA gene have been identified;recently, these polymorphisms have attracted widespread attention [13]. A number of case-control studies have been conducted to investigate the association of these polymorphisms with autoimmune and inflammatory diseases [14][15][16][17][18][19][20][21][22][23][24][25][26][27]. However, these studies reported conflicting results.…”

Section: Introductionmentioning

confidence: 99%

Association of the NFKBIA gene polymorphisms with susceptibility to autoimmune and inflammatory diseases: a meta-analysis

et al. 2010

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“…17 Although polymorphisms within the IKBα gene have been described to be associated with MM, 24,25 Crohn's disease, 26 trachoma, 27 sarcoidosis, 28 and invasive pneumococcal disease, 29 the role of genetic variation within critical components of the NF-κB pathway, including NFKB2 and TRAF3, remains unexplored in myeloma. Moreover, whether polymorphisms in NF-κB pathwayrelated genes influence the efficacy of bortezomib-based treatment in MM patients is unknown.…”

Section: Introductionmentioning

confidence: 99%

Polymorphisms of nuclear factor- B family genes are associated with development of multiple myeloma and treatment outcome in patients receiving bortezomib-based regimens

Jun

Shi

et al. 2011

Haematologica

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The online version of this article has a Supplementary Appendix. BackgroundThe nuclear factor-κB pathway is an important signaling pathway activated in multiple myeloma cells. Bortezomib inhibits nuclear factor-κB activation and is an important antimyeloma agent. Nevertheless, patients treated with this drug eventually relapse. We hypothesized that the nuclear factor-κB pathway may be associated with multiple myeloma and patients' responses to bortezomib. Design and MethodsIn this study we analyzed 26 polymorphism sites of nuclear factor-κB family member genes, IKBα, NFKB2, and TRAF3, in 527 unrelated Chinese Han subjects (252 with multiple myeloma and 275 controls) using a Sequenom MassARRAY genotyping assay, and examined the outcome of 83 patients treated with a bortezomib-based regimen. ResultsSingle nucleotide polymorphisms in the TRAF3 rs12147254 A allele and a specific haplotype 1 of TRAF3 [GAACAG] are associated with a decreased risk of multiple myeloma (odds ratio 0.709, P<0.001, and odds ratio 0.543, P<0.0001), while TRAF3 haplotype 4 [GGACAG] was associated with an increased risk of development of multiple myeloma (odds ratio 2.099, P=0.001). Moreover, the TRAF3 rs11160707 GA+AA genotype was significantly associated with a better progression-free survival (P=0.018). Patients with the NFKB2 rs12769316 GA+AA genotype had a superior overall survival (P=0.020), while those with the rs1056890 CT+TT genotype had an inferior overall survival (P=0.037). In an exploratory analysis, patients with the GA+AA/CC/GG genotype at the rs12769316, rs1056890, and rs11160707 sites had a significantly superior overall survival compared to patients with a wild-type genotype (P=0.007). In the multivariable analysis, TRAF3 rs11160707 was found to be an independent favorable factor for progression-free survival (hazard ratio 0.428, P=0.028). ConclusionsNuclear factor-κB family member gene polymorphisms play a role in the development of multiple myeloma and in the response to bortezomib therapy. Polymorphisms of nuclear factor-κB family genes are associated with development of multiple myeloma and treatment outcome in patients receiving bortezomib-based regimens

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A polymorphism of the NFKBIA gene is associated with Crohn's disease patients lacking a predisposing allele of the CARD15 gene

Abstract: The findings indicate that the phenotype Crohn's disease is to be substructured with respect to genetic susceptibility.

Cited by 65 publications

References 20 publications

Association of NFKB1 and NFKBIA Polymorphisms in Relation to Susceptibility of Behçet's Disease

Association of NFKB1 and NFKBIA Polymorphisms in Relation to Susceptibility of Behçet's Disease

Association of the NFKBIA gene polymorphisms with susceptibility to autoimmune and inflammatory diseases: a meta-analysis

Polymorphisms of nuclear factor- B family genes are associated with development of multiple myeloma and treatment outcome in patients receiving bortezomib-based regimens

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